Hearing impairment, Highly arched eyebrow, Hypertelorism, Intellectual disability, mild, Low-set ears, Malar flattening, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Myopia, No permanent dentition, Parasomnia, Patent ductus arteriosus, Persistence of primary teeth, Prominent occiput, Protruding ear, Ptosis, Short middle phalanx of the 5th finger, Short philtrum, Sleep disturbance, Strabismus, Supernumerary nipple, Symphalangism of the 5th finger, Thick eyebrow, Thick vermilion border, Toe syndactyly, Triangular mouth, Ventricular septal defect

decreased corneal epithelium thickness, decreased total retina thickness, decreased urine osmolality, dilated proximal convoluted tubule, dilated renal tubules, eye opacity, fused cornea and lens, increased cardiac muscle contractility, increased circulating creatinine level, increased circulating parathyroid hormone level, increased grip strength, increased kidney apoptosis, increased renal tubule apoptosis, kidney vascular congestion, limbs/digits/tail phenotype, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, ocular hypertension, optic nerve cupping, optic nerve degeneration, postnatal lethality, complete penetrance, preweaning lethality, complete penetrance, pulmonary vascular congestion, retina ganglion cell degeneration, small kidney, thin retina inner plexiform layer